Absent pulmonary valve syndrome: prenatal cardiac ultrasound diagnosis with autopsy correlation

Absent pulmonary valve syndrome (APVS) is a rare conotruncal anomaly consisting of a severely hypoplastic pulmonary valve with annular stenosis, aneurysmal dilatation of main pulmonary artery with dilatation of one or both pulmonary artery branches, and a ventricular septal defect. Here, we report a prenatal echo diagnosis of APVS in a 27-year-old primi gravida at 20 weeks of gestation confirmed on fetal autopsy. A 'bow tie'-like hypoechoic shadow in fetal cardiac ultrasound observed by us in a modified four-chamber view was suggestive of aneurysmal dilatation of branch pulmonary arteries. The consequences of continuation of pregnancy including immediate neonatal complications and possible medical and multistaged surgical interventions were well explained. Parents opted for medical termination of pregnancy. Autopsy findings of the fetus were consistent with the prenatal echo diagnosis of APVS. The presence of patent ductus arteriosus seen in the autopsy may be the cause of severe heart failure evidenced by the abnormally large congested liver, dilated right heart chambers, and tricuspid valve annulus. We infer that the prenatal diagnosis of APVS may be possible with a high degree of accuracy with characteristic fetal echocradiographic findings such as 'bow tie'-like or 'ballooning'-like shadows observed in this case. The presence of ductus confirms definite fetal loss and the parents can be counselled accordingly. However, when the ductus is absent, decision-making is difficult as the fetus is going to survive.     

Congenitally corrected transposition with mirror-image atrial arrangement

Congenitally corrected transposition (discordant atrioventricular and ventriculoarterial connexions) with mirror-image atrial arrangement is much less frequent than the same chamber combinations in the setting of usual atrial arrangement. This scarcity of cases has made their analysis difficult. In this study we have compared the anomalies found in 19 patients with congenitally corrected transposition in mirror-image arrangement with those in 39 patients having usual atrial arrangement. Absolute, relative and attributable risks were calculated for the presence of subvalvar pulmonary stenosis, ventricular septal defect, tricuspid regurgitation, atrioventricular block or the absence of these anomalies for each of the two groups. A greater absolute risk was found for both subvalvar pulmonary stenosis (68.4 vs. 43.6%, respectively) and ventricular septal defect (63.2 vs. 58.9%, respectively). The absolute risk for tricuspid regurgitation was 25.6% in those with usual arrangement as against 21.1% in those with mirror-image arrangement. Atrioventricular block was also more frequent in those with usual arrangement (25.6 vs. 10.5%) as was absence of associated cardiac defects (17.9 vs. 10.5%, respectively). The relative risks were greater for subvalvar pulmonary stenosis and ventricular septal defect in the patients with mirror-image as opposed to usual atrial arrangement (1.57: 1.00 and 1.07: 1.00, respectively), contrasting with greater relative risk for tricuspid regurgitation (1.26: 1.00), atrioventricular block (2.43: 1.00) and absence of associated anomalies (1.70: 1.00) in the patients with usual arrangement. The attributable risk for subvalvar pulmonary stenosis was estimated to be 24.8% and ventricular septal defect 4.3% for those having mirror-image atrial arrangement.(ABSTRACT TRUNCATED AT 250 WORDS)     

室间隔缺损并发畸形的发生率和超声心动图检测的漏诊分析

目的 :探讨室间隔缺损并发畸形的发生率及超声心动图漏检并发畸形的原因。方法 :对 379例非复杂性先心病室缺并发畸形的超声心动图检测结果与手术所见进行比较。结果 :较常见的非复杂性先心病室缺并发畸形的发生率为 36.0 % ,为卵圆形未闭、房缺、动脉导管未闭、右室流出道狭窄、右室双腔心及肺动脉瓣狭窄。超声心动图比较容易漏诊的室缺并发畸形为卵圆孔未闭、右室流出道狭窄及一些少见并发畸形。结论 :彩色多普勒超声心动图对室缺并发畸形具有一定的漏诊率 ,注意全面扫查及改进探查技巧有助于提高室缺并发畸形的检出     

Prenatal diagnosis of fetal absent pulmonary valve syndrome by two‐ and three‐dimensional echocardiography

Absent pulmonary valve syndrome (APVS) is a rare congenital cardiac anomaly characterized by hypoplastic or even absent pulmonary valve, to‐and‐fro flow across the pulmonary valve annulus, and dilatation of main pulmonary artery and branches. It is crucial to evaluate the degree of dilatation of pulmonary arteries and the presence of associated malformation and chromosomal anomalies affecting pregnancy decision. We described two‐ and three‐dimensional (3D) echocardiographic findings of one fetus with APVS and indicated the beneficial contribution of 3D technology in understanding the anatomy.     

Severe Right Ventricular Dysplasia with Absent Pulmonary Valve Syndrome and Tricuspid Atresia: A Literature Review

This is a newborn male prenatally diagnosed with severe right ventricular (RV) hypertrophy and depressed function, aneurysmal dilation of the main pulmonary artery and tachyarrhythmia. Postnatally, he required immediate intubation and inotropic support. Echocardiogram revealed a large dysplastic RV, absent pulmonary valve syndrome (APVS), markedly dilated pulmonary arteries and tricuspid atresia (TA). The trabecular portion of the RV was excessively trabeculated and severely dilated. Inflow and infundibular walls were thin, with multiple infundibular aneurysms. There was APVS with free regurgitation and massively dilated pulmonary arteries. The RV bulged into the LV, though there was no outflow tract obstruction. The LV had mildly depressed systolic function. Computed tomography angiography showed marked dilation of the main and branch pulmonary arteries, with compression of the airway. This, along with profound anasarca, prohibited weaning of ventilatory support. Ventricular tachycardia contributed to low cardiac output. Genetic testing revealed a heterozygous variant in the desmoplakin (DSP) gene, which is associated with familial arrhythmogenic RV dysplasia and dilated cardiomyopathy. The parents opted to withdraw care. Severe RV dysplasia associated with APVS and TA has previously been reported, however the degree of RV dilation with primitive myocardium in this case is profound. Further, presence of both fetal and postnatal ventricular tachycardia contributing to low cardiac is a novel presentation. This demonstrates that the overall poor prognosis was multifactorial.     

Giant right atrium and subvalvular pulmonary stenosis: A case report of an interesting combination

A 20‐year‐old Congolese woman presented with presyncope, dyspnea, and anasarca. Past medical history was unremarkable. Echocardiography revealed a rare combination of giant right atrium (RA), a dilated and hypertrophied right ventricle, subvalvular pulmonary stenosis (subPS), severe tricuspid regurgitation (TR), pericardial effusion and what appeared to be a spontaneously closed ventricular septal defect (VSD). Cardiac Magnetic Resonance and Cardiac Computed Tomography confirmed the findings excluding the presence of intra‐cardiac and extra‐cardiac shunt and other associated congenital anomalies. The patient underwent subPS resection, right atrioplasty, and tricuspid annuloplasty. Multimodality approach facilitated the detection of the abnormalities and provided clarity when determining the optimal surgical strategy.     

Non-invasive diagnosis and assessment of tricuspid regurgitation and stenosis using one and two dimensional echo-pulsed Doppler.

Twenty normal subjects and 82 patients with valvular heart disease, whose lesions were independently assessed either by cardiac catheterisation and/or at operation, were studied using the pulsed Doppler technique combined with either one or two dimensional echocardiography. Of these, 41 patients had tricuspid lesions, including 40 with regurgitation and nine with stenosis. The tricuspid analogue flow velocity trace and the Doppler frequency spectrum (time interval histogram) were recorded. Characteristic differences were found between the records from subjects with and without tricuspid lesions. In subjects with tricuspid regurgitation there was a systolic negative wave on the analogue velocity display and broadening of the time interval histogram. In subjects with tricuspid stenosis there was an abnormal pattern, and significantly increased duration of the diastolic wave on the analogue velocity trace, again with broadening of the time interval histogram. Sensitivity and specificity ranged between 85 and 95%. The calculated ratio between the measured amplitudes of the systolic and diastolic waves correlated well with independently performed grading of the regurgitation on a three point scale in 85% of cases. Grading of the severity of tricuspid stenosis on a three point scale based on studies of the diastolic Doppler velocity anomalies was the same in 85% of cases as the grading based on established invasive techniques. The addition of two dimensional echocardiography to the pulsed Doppler technique increased the sensitivity for mild lesions.     

Autosomal dominant Mendelian midline complex. Secundum atrial septal defect associated with cardiac and facial-thoracic defects. A familial case

The kindred of 38 individuals reported here have various anomalies: 1. facio-thoracic malformations: hypertelorism, nasal deviation, cleft lip and palate, upper-incisors diastema and pectus excavatum; 2. cardiac anomalies: sinus node bradycardia, atrial fibrillation, nodal rhythm, atrial septal defect. Wolff-Parkinson-White syndrome, low insertion of the septal tricuspid valve corresponding to an Ebstein syndrome, pulmonic "en d?me" valve stenosis, aortic valve stenosis, long QT, and intraventricular conduction blocks. Almost all these defects are septal or para-septal. Mitral stenosis is probably rheumatoid. Such median varied pathology has not been yet reported. All the extra-cardiac anomalies are situated along the vertical upper half-body midline. All cardiac anomalies are in the septal or para-septal region. It is an autosomal dominant trait that implies the early embryonic development of the midline of cardiac and extra-cardiac structures.     

Percutaneous balloon valvotomy in tricuspid stenosis.

This report describes the first successful treatment of tricuspid stenosis by percutaneous double balloon valvotomy. There was a dramatic reduction of the tricuspid valve gradient, with an increase in calculated valve area, together with an increase in resting cardiac output and symptomatic relief. The feasibility of the non-surgical treatment of severe tricuspid stenosis was demonstrated unequivocally.     

Percutaneous balloon valvotomy in tricuspid stenosis

This report describes the first successful treatment of tricuspid stenosis by percutaneous double balloon valvotomy. There was a dramatic reduction of the tricuspid valve gradient, with an increase in calculated valve area, together with an increase in resting cardiac output and symptomatic relief. The feasibility of the non-surgical treatment of severe tricuspid stenosis was demonstrated unequivocally.     

Double outlet right ventricle with discordant atrioventricular connection. Clinical study

The clinical and anatomic findings were reviewed in 17 patients with double-outlet right ventricle and atrioventricular discordance. Ten cases had atrial situs solitus, seven with right-sided heart three with left-sided heart. Seven cases had atrial situs inversus, five with left-sided heart and two with right-sided heart. All cases presented ventricular septal defect, 13 subvalvar pulmonary stenosis, two tricuspid regurgitation and two complete atrioventricular block. The spatial relationship between the arterial valves are variable. Most cases in atrial situs solitus had a left-sided and anterior aorta and all patients in atrial situs inversus had a right-sided and anterior aorta. In this study we compared the anomalies found in our cases with double outlet right ventricle with those in 58 patients with corrected transposition. Absolute, relative and attributable risks were calculated for the presence of subvalvular pulmonary stenosis, ventricular septal defect, tricuspid regurgitation and atrioventricular block for each the two groups. We concluded that patients with double-outlet right ventricle are more prone to present ventricular septal defect and subvalvar pulmonary stenosis, while those with corrected transposition have a greater likelihood of presenting with tricuspid regurgitation and atrioventricular block. There is no typical clinical picture for the malformations. Symptoms depend upon the associated anomalies. The final diagnosis is best achieved by the echocardiographic and angiocardiographic studies, but electrocardiogram and chest radiograph may suggest the presence of a discordant atrioventricular connection.     

Fetal hydrops in a newborn with hypoplastic left heart syndrome: tricuspid valve "stopper"

Fetal hydrops in a newborn infant with hypoplastic left heart syndrome led to the discovery of tricuspid stenosis and insufficiency from an unusual malformation of the right venous valve of the embryonic sinus venosus. This unfortunate combination of lesions precluded surgical palliation for the hypoplastic left heart.     

Pathology of tricuspid valve stenosis and pure tricuspid regurgitation—Part II

This three-part article examines the histologic and morphologic basis for stenotic and purely regurgitant tricuspid valves. In Part I, conditions producing tricuspid valve stenosis were reviewed. In Part II, conditions producing pure tricuspid regurgitation are discussed. In contrast to the relatively few causes of tricuspid stenosis, the causes of pure (no element of stenosis) tricuspid regurgitation are multiple. Some of the conditions producing pure regurgitation include floppy tricuspid valves, infective endocarditis, papillary muscle dysfunction, rheumatic disease, and Ebstein's anomaly.     

Isolated Rheumatic Tricuspid Stenosis with Reverse Lutembacher's Physiology

Tricuspid valve dysfunction occurs frequently in patients with rheumatic heart disease and is usually manifested as functional or organic tricuspid regurgitation. Rheumatic tricuspid stenosis is less common and occurs characteristically in the presence of concomitant mitral valve disease. In this report, we describe the clinical and echocardiographic findings in a patient with isolated rheumatic tricuspid stenosis and a right-to-left shunt across the interatrial septum, likely as a result of a patent foramen ovale, resulting in central cyanosis. This case illustrates an interesting association of tricuspid stenosis and an interatrial right-to-left shunt suggestive of a reverse Lutembacher's physiology.     

Severe tricuspid valve stenosis secondary to pacemaker leads presenting as ascites and liver dysfunction: a complex problem requiring a multidisciplinary therapeutic approach

Tricuspid stenosis secondary to ventricular pacemaker leads is uncommon. We present a unique case of iatrogenic tricuspid stenosis secondary to fusion of the valve leaflets to transvenous implanted pacing leads. This occurred in an adult with childhood repaired Tetralogy of Fallot and high grade surgical heart block following multiple pacemaker procedures. The case was complicated by superior vena cava (SVC) and innominate vein stenosis secondary to implanted pacing leads, severe tricuspid valve (TV) stenosis, perforation of the heart by one of the implanted transvenous ventricular pacing leads, prolapse of the transvenous atrial pacing lead into the right ventricle, and unusual coronary sinus anatomy. We describe a multidisciplinary approach to management.     

Insuffisance cardiaque par rétrécissement tricuspidien provoqué par une sonde d’électrostimulation. À propos d’un cas

Tricuspid stenosis (TS) is an uncommon complication of ventricular pacemaker implantation. Mechanisms described by the literature are ventricular inflow obstruction by tricuspid vegetations (endocarditis) or multiple pacemaker leads and fibrosis secondary to mechanical trauma, accounting for perforation or laceration of the TV leaflets, or adherence between redundant loops and valve tissue. We present the case of iatrogenic tricuspid stenosis, observed in a 77-year-old man. Extrinsic tricuspid valve stenosis was detected by transthoracic echocardiography. Further investigations confirmed the intramyocardial lead position. Tricuspid valve stenosis due to transvenous leads are reported to be treated by surgical replacement, surgical valvuloplasty, or percutaneous balloon valvuloplasty.     

彩色多普勒超声心动图对室间隔缺损并发畸形的诊断价值

目的 :探讨超声心动图检测室间隔缺损 （室缺 ）并发畸形的价值。方法 :将手术证实的室缺并发畸形与超声检查进行比较 ,分析超声检测敏感度、特异度及准确度。结果 :超声心动图检出室缺并发畸形的敏感度为 5 8.8% ,特异度 92 .9% ;准确度 80 .6 %。结论 :室缺并发卵圆孔未闭及并发右室流出道较易漏诊 ,其他一些少见并发畸形多因主观忽视而漏诊。注意全面扫查及改善检查技巧有助于提高室缺并发畸形的检出和减少误诊。     

Criss cross heart in a congenitally corrected transposition of the great arteries

Criss cross heart is an extremely rare anomaly accounting for less than 0.1% of congenital heart disease. It is characterized by an abnormal rotation of the heart on its long axis. Almost always there are associated cardiac anomalies such as pulmonary stenosis, ventricular septal defect, ventriculoarterial connection discord or hypoplasia of the tricuspid valve or right ventricle and thereby presenting in the neonatal period. We present a case of a 22 year old woman with a congenitally corrected transposition of great arteries and a criss cross heart.     

Left ventricular outflow tract obstruction in transposition of the great arteries. Correlation between anatomic and echocardiographic findings

INTRODUCTION AND OBJECTIVES: Left ventricle outflow tract obstructions in transposition of the great arteries are frequent. We report the correlations between two-dimensional echocardiographic and autopsy findings to draw attention to the usefulness of this diagnostic method in the preoperative evaluation of these anomalies. MATERIAL AND METHODS: Of 73 hearts with transposition of great arteries, 26 specimens (38%) with different types of left ventricular outflow tract obstruction were selected to establish the relationship between an anatomical substrate of obstruction and echocardiographic findings in equivalent hearts. Pulsed-wave Doppler studies of velocities at the site of stenosis were done with high-pulse-rate frequency and continuous wave techniques. Eight echocardiographic studies of anatomical specimens and 10 studies in equivalent hearts used for comparison were analyzed to determine correlations. RESULTS: Twenty-eight obstructions were found; the most frequent type being left ventricular outflow tract alteration (77%). The most frequent anomalies were posterior deviation of the infundibular septum, cone-like obstruction, pulmonary valve stenosis and septal hypertrophy, followed by congenital mitral valve anomalies (15 %) and anomalies of the tricuspid valve (8%). Two-dimensional echocardiographic studies revealed different types anatomical obstruction. CONCLUSIONS: We found precise correlations between the anatomical obstruction and its echocardiographic image. Evaluating electrocardiographic findings is important because these findings can affect the choice of surgical treatment or even the decision to use surgery.     

A rare mechanism of aortic regurgitation in a young patient

A 19‐year‐old male patient was admitted to our institute with dyspnea. His medical history had no rheumatic fever or infective endocarditis. Physical examination revealed a diastolic murmur over the aortic area, rales of bilateral lungs. Bedside transthoracic echocardiography (TTE) revealed a severe aortic regurgitation (AR) without aortic valve stenosis and a moderately dilated left ventricle accompanied by an ejection fraction of 55%. The aortic valve could not be clearly demonstrated as either bicuspid or tricuspid. Congenital AR typically occurs in conjunction with an additional cardiac abnormality or aortic valve stenosis. Furthermore, bicuspid aortic valves are observed in the majority of patients. The aortic valve is created from the truncus ridge of the truncus arteriosus while the embryological development.